Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242261 | SCV000315276 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000648769 | SCV000770590 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418089 | SCV002728498 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000242261 | SCV004029782 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |